Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853018
rs137853018
0.800 GeneticVariation UNIPROT Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. 18484239

2008

dbSNP: rs137853018
rs137853018
0.800 GeneticVariation UNIPROT ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. 18465152

2008

dbSNP: rs137853018
rs137853018
0.800 GeneticVariation UNIPROT A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. 18398442

2008

dbSNP: rs137853018
rs137853018
0.800 GeneticVariation UNIPROT Novel SACS mutation in a Belgian family with sacsin-related ataxia. 17716690

2008

dbSNP: rs137853019
rs137853019
0.800 GeneticVariation UNIPROT Novel SACS mutation in a Belgian family with sacsin-related ataxia. 17716690

2008

dbSNP: rs137853019
rs137853019
0.800 GeneticVariation UNIPROT Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene. 18484239

2008

dbSNP: rs137853019
rs137853019
0.800 GeneticVariation UNIPROT ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. 18465152

2008

dbSNP: rs137853019
rs137853019
0.800 GeneticVariation UNIPROT A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. 18398442

2008

dbSNP: rs137853016
rs137853016
0.800 GeneticVariation UNIPROT New mutation in the non-gigantic exon of SACS in Japanese siblings. 17290461

2007

dbSNP: rs137853017
rs137853017
0.800 GeneticVariation UNIPROT New mutation in the non-gigantic exon of SACS in Japanese siblings. 17290461

2007

dbSNP: rs137853018
rs137853018
0.800 GeneticVariation UNIPROT New mutation in the non-gigantic exon of SACS in Japanese siblings. 17290461

2007

dbSNP: rs137853019
rs137853019
0.800 GeneticVariation UNIPROT New mutation in the non-gigantic exon of SACS in Japanese siblings. 17290461

2007

dbSNP: rs137853016
rs137853016
0.800 GeneticVariation UNIPROT A phenotype without spasticity in sacsin-related ataxia. 15985586

2005

dbSNP: rs137853016
rs137853016
0.800 GeneticVariation UNIPROT Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. 16007637

2005

dbSNP: rs137853017
rs137853017
0.800 GeneticVariation UNIPROT A phenotype without spasticity in sacsin-related ataxia. 15985586

2005

dbSNP: rs137853017
rs137853017
0.800 GeneticVariation UNIPROT Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. 16007637

2005

dbSNP: rs137853018
rs137853018
0.800 GeneticVariation UNIPROT A phenotype without spasticity in sacsin-related ataxia. 15985586

2005

dbSNP: rs137853018
rs137853018
0.800 GeneticVariation UNIPROT Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. 16007637

2005

dbSNP: rs137853019
rs137853019
0.800 GeneticVariation UNIPROT Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. 16007637

2005

dbSNP: rs137853019
rs137853019
0.800 GeneticVariation UNIPROT A phenotype without spasticity in sacsin-related ataxia. 15985586

2005

dbSNP: rs137853016
rs137853016
0.800 GeneticVariation UNIPROT Identification of a SACS gene missense mutation in ARSACS. 14718708

2004

dbSNP: rs137853016
rs137853016
0.800 GeneticVariation UNIPROT Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. 15156359

2004

dbSNP: rs137853017
rs137853017
0.800 GeneticVariation UNIPROT Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. 15156359

2004

dbSNP: rs137853017
rs137853017
0.800 GeneticVariation UNIPROT Identification of a SACS gene missense mutation in ARSACS. 14718708

2004

dbSNP: rs137853018
rs137853018
0.800 GeneticVariation UNIPROT Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. 15156359

2004